Tetrasomy and pentasomy of the X chromosome

@article{Schoubben2011TetrasomyAP,
  title={Tetrasomy and pentasomy of the X chromosome},
  author={E. Schoubben and K. Decaestecker and K. Quaegebeur and L. Danneels and G. Mortier and L. Cornette},
  journal={European Journal of Pediatrics},
  year={2011},
  volume={170},
  pages={1325-1327}
}
We describe a newborn girl with a life-threatening laryngomalacia and extreme hypotonia. Genetic analysis revealed the very rare genetic condition mosaicism of 48,XXXX and 49,XXXXX (50/50). We here state that the degree of early hypotonia constitutes an important early prognostic feature in this syndrome. The timely insertion of a gastrostomy is warranted in order to prevent aspiration. Conclusion: A karyotype is mandatory in female newborns with moderate to severe hypotonia in order to exclude… Expand
10 Citations
Report of a new case with pentasomy X and novel clinical findings
Unusual brain changes in tetrasomy x chromosomal anomaly.
Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child

References

SHOWING 1-5 OF 5 REFERENCES
A PHENOTYPIC FEMALE WITH 49 CHROMOSOMES, PRESUMABLY XXXXX. A CASE REPORT.
Sex chromosome tetrasomy and pentasomy.
Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis
An XXXX sex chromosome complex in two mentally defective females.